Background/Purpose: Localized scleroderma (LS) is an autoimmune condition whose
hallmarks are progressive skin fibrosis and atrophy.  However, LS is unique among skin
diseases for its wide range of reported extracutaneous
manifestations (ECMs), including joint contractures, limb-length discrepancies,
hemifacial atrophy, uveitis, neurologic sequelae, reflux, and dysphagia. Prior studies reported
ECMs in 15-22% of LS patients, but were limited by retrospective, cross-sectional
designs.  This study aims to
describe a standardized, comprehensive list of ECMs, captured prospectively, in
a large pediatric LS cohort.

Methods: We extracted
demographic and clinical data from the National Registry for Childhood Onset
Scleroderma (NRCOS) database as part of an ongoing study on quality of life in
LS.  Patients included were between
4-16 years old, enrolled in NRCOS from 2002-2013, and had at least one
completed Children’s Dermatology Life Quality Index (i.e. CDLQI, a dermatologic
quality of life measure). Patients in NRCOS were assessed for a comprehensive,
standardized list of ECMs, prospectively at all clinic visits.

Data was examined to determine if
patients had ECMs attributable to LS (per physician judgment), the type of ECM
and organ/system involved, the total number of ECMs
ever experienced by patients (throughout follow-up in clinic), and proportion
of patients with ECMs by organ system.

Results: Eighty
subjects were included in analysis. The majority were
female (73%) and Caucasian (92%). 
At initial visit, subjects were a median 10.4 years old (IQR = 8.0-13.2
years old).  LS subtypes were
representative of pediatric onset disease (e.g. 33.8% linear limb/trunk, 17.5%
linear head/face, 13.8% generalized morphea, 15%
circumscribed morphea, 20% mixed subtype). Subjects
had a median of 29.5 months of follow-up (IQR: 14.0 to 50.3 months).

Sixty-six percent (n=53) of
patients experienced at least one ECM over a median follow-up period of 29.5
months per patient.  The mean number
of ECMs experienced by patients was 2 (median 1.5, IQR = 0-3). Forty-nine
percent of patients had at least one musculoskeletal ECM (n=39), 23% orofacial
(n=18; all also having hemifacial atrophy), 19% neurologic
(n=15), 8% ocular (n=6), 4% gastroenterologic (n=3), and
5% vascular (i.e. Raynaud’s phenomenon; n=4).  Table 1 shows specific ECMs by organ
system. 

Table 1: Prevalence
of Extracutaneous Manifestations by Organ System

Conclusion: The
present study suggests that rates of ECMs in pediatric LS patients may be
significantly higher than previously reported. Musculoskeletal ECMs were most
prevalent, followed by orofacial, neurologic and
ophthalmologic ECMs, with lower but still notable rates of gastroenterologic
ECMs and Raynaud’s phenomenon. These findings suggest that LS should not be
primarily construed as a skin disease, but rather a systemic illness with
potentially wide ranging and serious sequelae
unfolding over many years.